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Participant 186


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Female, age 3 with multiple congenital anomalies

Date of Report

Jul 26, 2021

Description

The participant was born with multiple congenital anomalies (borderline microcephaly, sparse hair, bent fingers, 3-4 finger syndactyly, talipes equinovarus, abnormal ears, hypoplastic fingernails, bilateral foot ectrodactyly, hypoplastic nipples, hypoplastic labia, proximally positioned anus). On ultrasound, she was found to have underdeveloped kidneys (bilateral renal dysplasia). Upon further evaluation, the participant was diagnosed with a narrowed nasal passageway (choanal stenosis) and multiple eye anomalies (microphthalmia, multiple colobomas, malformed globes).

At the time of her initial genetics evaluation, she was doing well but developed feeding difficulties and constipation soon after. She underwent an EEG for a concern of seizures, which was normal. She also underwent testing for an irregular heartbeat (heart arrhythmia), which resolved.

The participant has severe gastroesophageal reflux disease (GERD) and is dependent on a G-tube for feeding. She is in intensive feeding therapy and can eat and drink some orally, but continues to have a swallowing disorder.

She is a very active little girl and continues to make strides despite her long list of diagnoses.

Symptoms / Signs
  • Global developmental delay
  • Small head size (microcephaly)
  • Sparse hair and eyebrows
  • Absent or underdeveloped nails (aplasia/hypoplasia of the nails)
  • Eye abnormalities (microphthalmia; retinal, iris, and optic nerve coloboma; inferior lens subluxation)
  • Ear abnormalities (preauricular skin tag, hypoplastic helices)
  • Narrowed nasal opening (choanal stenosis)
  • Musculoskeletal abnormalities (3-4 finger syndactyly, split hand, split foot, short finger)
  • Gastroesophageal reflux (GERD)
  • Genitourinary abnormalities (vesicoureteral reflux)
  • Underdeveloped kidneys (bilateral renal dysplasia)
  • Underdeveloped nipples (hypoplastic nipples)
  • Constipation
Current Treatments
  • Clindamycin – antibiotic
  • Cyproheptadine – off label use for frequent vomiting
  • Ranitidine, esomeprazole magnesium, Nexium – GERD
  • SMO orthotic braces
  • Sulfatrim – UTI prophylaxis
  • Travaprost, Cosopt – eye pressure
  • Triamcinolone acetonide – skin rash
  • Vitamin D3 – low vitamin D
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Microdeletion/duplication syndrome
  • Single gene disorder
  • TP63-related disorders
Other Photographs
Genetic Variants of Interest

Clinicians and researchers are investigating the following de novo genetic changes to see if they are causing the participant’s symptoms:

Gene
Inheritance Pattern
Position (hg19)
Transcript
DNA Change
Protein Change
Autosomal dominant
chr17:g.63554543C>T
NM_004655.3
c.196G>A
p.Glu66Lys
Autosomal dominant
chr9:g.114291606A>G
NM_133464.2
c.412+1519A>G
N/A
Contact

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